Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3087
Gene name	Hematopoietically expressed homeobox
Gene symbol	HHEX
Synonyms (NCBI Gene)	HEXHMPHHOX11L-PENPRHPRHX
Chromosome	10
Chromosome location	10q23.33
Summary	This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020132	hsa-miR-130b-3p	Sequencing	20371350
MIRT031099	hsa-miR-19b-3p	Sequencing	20371350
MIRT1045002	hsa-miR-130a	CLIP-seq
MIRT1045003	hsa-miR-130b	CLIP-seq
MIRT1045004	hsa-miR-19a	CLIP-seq
MIRT1045005	hsa-miR-19b	CLIP-seq
MIRT1045006	hsa-miR-203	CLIP-seq
MIRT1045007	hsa-miR-301a	CLIP-seq
MIRT1045008	hsa-miR-301b	CLIP-seq
MIRT1045009	hsa-miR-3622a-5p	CLIP-seq
MIRT1045010	hsa-miR-3666	CLIP-seq
MIRT1045011	hsa-miR-4295	CLIP-seq
MIRT1045012	hsa-miR-4423-3p	CLIP-seq
MIRT1045013	hsa-miR-454	CLIP-seq
MIRT1045014	hsa-miR-4671-3p	CLIP-seq
MIRT1045015	hsa-miR-582-5p	CLIP-seq
MIRT2009868	hsa-miR-136	CLIP-seq
MIRT2009869	hsa-miR-3163	CLIP-seq
MIRT2009870	hsa-miR-4716-5p	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IC	18713067
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10871399, 15016828
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	18755198
GO:0000976	Function	Transcription cis-regulatory region binding	TAS	19324893
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	15016828
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	15016828
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	20028982
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	10597310, 12826010, 19324893, 20028982, 25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	12554669, 12588764, 12826010
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	12554669, 12826010
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008190	Function	Eukaryotic initiation factor 4E binding	IPI	12554669
GO:0008301	Function	DNA binding, bending	IDA	18755198
GO:0009952	Process	Anterior/posterior pattern specification	ISS
GO:0010793	Process	Regulation of mRNA export from nucleus	IDA	12554669
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	TAS	19324893
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016525	Process	Negative regulation of angiogenesis	ISS	15016828
GO:0016604	Component	Nuclear body	IEA
GO:0017025	Function	TBP-class protein binding	TAS	19324893
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IC	10871399
GO:0030154	Process	Cell differentiation	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030177	Process	Positive regulation of Wnt signaling pathway	ISS
GO:0030183	Process	B cell differentiation	ISS
GO:0030948	Process	Negative regulation of vascular endothelial growth factor receptor signaling pathway	ISS	15016828
GO:0032993	Component	Protein-DNA complex	IDA	18755198
GO:0034504	Process	Protein localization to nucleus	IDA	18713067
GO:0042803	Function	Protein homodimerization activity	IPI	16540119
GO:0043565	Function	Sequence-specific DNA binding	IDA	10871399
GO:0045182	Function	Translation regulator activity	IDA	12554669
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10871399, 15016828
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	20028982
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12655000
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20028982
GO:0070663	Process	Regulation of leukocyte proliferation	IDA	12554669
GO:0071103	Process	DNA conformation change	IDA	18755198
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IMP	20028982
GO:0140297	Function	DNA-binding transcription factor binding	IDA	15187083
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15016828
GO:1904689	Process	Negative regulation of cytoplasmic translational initiation	IDA	12554669

MIM	HGNC	e!Ensembl
604420	4901	ENSG00000152804

Q03014

Protein name

Hematopoietically-expressed homeobox protein HHEX (Homeobox protein HEX) (Homeobox protein PRH) (Proline-rich homeodomain protein)

Protein function

Recognizes the DNA sequence 5'-ATTAA-3' (By similarity). Transcriptional repressor (By similarity). Activator of WNT-mediated transcription in conjunction with CTNNB1 (PubMed:20028982). Establishes anterior identity at two levels; acts early to

PDB

2E1O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	138 → 194	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver and promyelocytic leukemia cell line HL-60. {ECO:0000269|PubMed:1360645, ECO:0000269|PubMed:8096636, ECO:0000269|PubMed:8103988}.

Sequence

MQYPHPGPAAGAVGVPLYAPTPLLQPAHPTPFYIEDILGRGPAAPTPAPTLPSPNSSFTS
LVSPYRTPVYEPTPIHPAFSHHSAAALAAAYGPGGFGGPLYPFPRTVNDYTHALLRHDPL
GKPLLWSPFLQRPLHKRKGGQVRFSNDQTIELEKKFETQKYLSPPERKRLAKMLQLSERQ
VKTWFQNRRAKWRRLKQENPQSNKKEELESLDSSCDQRQDLPSEQNKGASLDSSQCSPSP
ASQEDLESEISEDSDQEVDIEGDKSYFNAG

Sequence length

270

Interactions

View interactions

	KEGG
	Maturity onset diabetes of the young Transcriptional misregulation in cancer

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal dominant polycystic liver disease	Uncertain significance	rs1014685241	RCV001844930

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	20724036, 23036584, 26173052
Arthritis Rheumatoid	Associate	28712091
Atherosclerosis	Associate	24371822
Breast Neoplasms	Associate	16854221, 19588232, 30457165
Carcinogenesis	Associate	20176809, 36008411
Carcinoma Ductal Breast	Inhibit	16854221
Carcinoma Non Small Cell Lung	Associate	34321041
Carcinoma Squamous Cell	Associate	35779918
Chromosomal Instability	Associate	37039257
Colorectal Neoplasms	Associate	27105501, 36008411, 37039257
Diabetes Gestational	Associate	34928995
Diabetes Mellitus	Associate	17463249, 18544707, 18719881, 19008344, 20929593, 29720110, 30457165
Diabetes Mellitus Type 1	Associate	19455305
Diabetes Mellitus Type 2	Associate	17463248, 17463249, 17786204, 18426861, 18461161, 18469204, 18633108, 18719881, 19008344, 19020324, 19033397, 19228808, 19401414, 19502414, 19592620 View all (29 more)
Diabetic Retinopathy	Associate	28821857
Hypoglycemia	Associate	18633108, 33353041
Hypothyroidism	Associate	29650690
Inflammation	Associate	26634547
Inflammation	Inhibit	35887298
Insulin Resistance	Associate	22998375, 26634513
Leukemia	Associate	20176809, 34321041
Leukemia Myeloid	Associate	19588232
Leukemia Myeloid Acute	Associate	31825998
Leukemia Promyelocytic Acute	Inhibit	27052408
Leukemia T Cell	Inhibit	22844093
Lung Neoplasms	Inhibit	34321041
Lung Neoplasms	Associate	39929349
Lymphoma Non Hodgkin	Associate	36273105
Metabolic Syndrome	Associate	37816730
Multiple Sclerosis	Associate	35887298
Neoplasms	Associate	19588232, 20176809, 22844093, 34321041
Obesity	Associate	18469204, 23349771, 24062323
Overweight	Associate	23349771
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	28151996
Psoriasis	Inhibit	26634547
Sandhoff Disease	Associate	33407268
Simpson Golabi Behmel syndrome	Associate	22998375
Skin Diseases	Inhibit	26634547
Smoke Inhalation Injury	Associate	29720110
Stiff Person Syndrome	Associate	33407268
Thyroid Dysgenesis	Associate	26757609, 29650690

HHEX (hematopoietically expressed homeobox)